"Ambry Genetics"[submitter] AND "C8orf48"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2356781	NM_001007090.3(C8orf48):c.340G>T (p.Val114Leu)	C8orf48, DLC1 (V114L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219663	NM_001007090.3(C8orf48):c.401A>G (p.His134Arg)	C8orf48, DLC1 (H134R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229886	NM_001007090.3(C8orf48):c.404G>A (p.Arg135His)	C8orf48, DLC1 (R135H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2234575	NM_001007090.3(C8orf48):c.416C>A (p.Ser139Tyr)	C8orf48, DLC1 (S139Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234576	NM_001007090.3(C8orf48):c.528C>G (p.Ile176Met)	C8orf48, DLC1 (I176M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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